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MCID: PLY006
MIFTS: 58

Polydactyly

Categories: Bone diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Polydactyly

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MalaCards integrated aliases for Polydactyly:

Name: Polydactyly 57 12 73 20 29 54 6 44 15 39 32
Non-Syndromic Polydactyly 20 58
Polydactyly, Postaxial 44 70
Postaxial Polydactyly 12
Supernumerary Digits 20
Supernumerary Digit 12
Polydactylism 20
Extra Digits 20
Hyperdactyly 20
Polydactylia 20

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1148
OMIM® 57 603596
ICD9CM 34 755.0
NCIt 50 C87110
SNOMED-CT 67 205119005
ICD10 32 Q69 Q69.9
MESH via Orphanet 45 D017689
ICD10 via Orphanet 33 Q69.0 Q69.1 Q69.2 more
UMLS via Orphanet 71 C0152427
Orphanet 58 ORPHA2913
MedGen 41 C0152427
UMLS 70 C0152427 C0220697
Sources

Summaries for Polydactyly

About this section
GARD : 20 Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in association with other birth defects and cognitive abnormalities as part of a genetic syndrome. In some cases, the extra digits may be well-formed and functional. Surgery may be considered especially for poorly formed digits or very large extra digits. Surgical management depends greatly on the complexity of the deformity.

MalaCards based summary : Polydactyly, also known as non-syndromic polydactyly, is related to short-rib thoracic dysplasia 3 with or without polydactyly and polydactyly, preaxial ii. An important gene associated with Polydactyly is HOXD13 (Homeobox D13), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. The drugs Clonidine and Adrenergic alpha-Agonists have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and bone, and related phenotypes are growth/size/body region and mortality/aging

Disease Ontology : 12 A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.

Wikipedia : 73 Polydactyly or polydactylism (from Greek πολύς (polys) 'many', and δάκτυλος (daktylos) 'finger'), also... more...

More information from OMIM: 603596
Sources

Related Diseases for Polydactyly

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Diseases in the Polydactyly family:

Central Polydactyly

Diseases related to Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 648)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 3 with or without polydactyly 33.3 IFT81 IFT172 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1
2 polydactyly, preaxial ii 33.1 SHH LMBR1
3 short-rib thoracic dysplasia 12 33.0 IFT81 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
4 short-rib thoracic dysplasia 7 with or without polydactyly 33.0 DYNLT2B DYNC2I1
5 short-rib thoracic dysplasia 8 with or without polydactyly 33.0 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
6 short-rib thoracic dysplasia 6 with or without polydactyly 33.0 IFT172 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
7 short-rib thoracic dysplasia 11 with or without polydactyly 32.9 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
8 short-rib thoracic dysplasia 14 with polydactyly 32.9 ZNF141 GLI3
9 acrocallosal syndrome 32.8 ZNF141 SHH GLI3 BBS4 BBS2
10 mckusick-kaufman syndrome 32.8 TTC8 GLI3 BBS4 BBS2
11 laurin-sandrow syndrome 32.7 ZNF141 SHH MIPOL1 LMBR1 GLI3
12 short-rib thoracic dysplasia 4 with or without polydactyly 32.6 DYNLT2B DYNC2I1
13 short-rib thoracic dysplasia 1 with or without polydactyly 32.5 IFT81 IFT172 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1
14 culler-jones syndrome 32.5 SHH GLI3
15 tibia, hypoplasia or aplasia of, with polydactyly 32.5 SHH LMBR1 HOXD13 GLI3
16 greig cephalopolysyndactyly syndrome 32.4 ZNF141 SHH LMBR1 GLI3
17 ellis-van creveld syndrome 32.4 SHH IFT81 IFT172 GLI3 DYNLT2B DYNC2LI1
18 weyers acrofacial dysostosis 32.3 IFT81 IFT172 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1
19 pallister-hall syndrome 32.2 ZNF141 SHH HOXD13 GLI3
20 bardet-biedl syndrome 1 32.1 TTC8 MKS1 IFT172 BBS4 BBS2
21 bardet-biedl syndrome 17 32.0 TTC8 BBS4 BBS2
22 orofaciodigital syndrome iv 32.0 DYNC2I2 DYNC2I1 CPLANE1
23 asphyxiating thoracic dystrophy 32.0 SHH MKS1 IFT81 IFT172 DYNLT2B DYNC2LI1
24 bardet-biedl syndrome 7 32.0 DYNLT2B DYNC2I2 DYNC2I1
25 bardet-biedl syndrome 32.0 TTC8 SHH MKS1 IFT81 IFT172 GLI3
26 meckel syndrome, type 1 31.9 SHH MKS1 IFT81 IFT172 GLI3 DYNC2H1
27 bardet-biedl syndrome 3 31.9 TTC8 MKS1 BBS4 BBS2
28 bardet-biedl syndrome 16 31.9 TTC8 MKS1 BBS4
29 bardet-biedl syndrome 6 31.8 TTC8 MKS1 BBS4 BBS2
30 bardet-biedl syndrome 13 31.8 TTC8 MKS1 BBS4 BBS2
31 bardet-biedl syndrome 19 31.8 TTC8 MKS1 BBS4 BBS2
32 bardet-biedl syndrome 8 31.7 TTC8 MKS1 BBS4 BBS2
33 bardet-biedl syndrome 11 31.7 TTC8 MKS1 IFT172 BBS4 BBS2
34 joubert syndrome 1 31.6 SHH MKS1 IFT81 IFT172 GLI3 DYNC2LI1
35 bardet-biedl syndrome 14 31.6 TTC8 MKS1 BBS4 BBS2
36 bardet-biedl syndrome 18 31.5 TTC8 MKS1 BBS4 BBS2
37 syndactyly, type iv 31.2 ZNF141 SHH LMBR1 HOXD13 GLI3
38 townes-brocks syndrome 31.2 SHH HOXD13 GLI3
39 synpolydactyly 31.1 LMBR1 HOXD13 GLI3
40 holoprosencephaly 31.1 SHH LMBR1 IFT172 GLI3
41 cleft lip/palate 31.0 IFT172 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
42 chromosome 2q35 duplication syndrome 30.9 SHH LMBR1 HOXD13 GLI3
43 retinitis pigmentosa 30.4 TTC8 SHH MKS1 IFT81 IFT172 GLI3
44 cranioectodermal dysplasia 30.4 MKS1 IFT172 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1
45 anus, imperforate 30.4 SHH HOXD13 GLI3
46 radial hemimelia 30.2 SHH LMBR1
47 skin tag 30.2 LMBR1 GLI3
48 senior-loken syndrome 1 30.2 MKS1 IFT172 BBS4
49 encephalocele 30.1 MKS1 CPLANE1
50 synostosis 30.1 SHH LMBR1 HOXD13 GLI3

Graphical network of the top 20 diseases related to Polydactyly:



Diseases related to Polydactyly
Sources

Symptoms & Phenotypes for Polydactyly

About this section

Clinical features from OMIM®:

603596 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Polydactyly:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.38 BBS2 BBS4 BRCA2 CCND2 CPLANE1 DYNC2H1
2 mortality/aging MP:0010768 10.34 BBS4 BRCA2 CCND2 CPLANE1 DYNC2H1 DYNC2I1
3 cellular MP:0005384 10.31 BBS2 BBS4 BRCA2 CPLANE1 DYNC2H1 DYNC2I2
4 cardiovascular system MP:0005385 10.29 BBS4 CCND2 CPLANE1 DYNC2H1 DYNC2I1 DYNC2LI1
5 embryo MP:0005380 10.27 BBS4 BRCA2 CPLANE1 DYNC2H1 DYNC2I1 DYNC2I2
6 nervous system MP:0003631 10.25 BBS2 BBS4 BRCA2 CCND2 CPLANE1 DYNC2H1
7 limbs/digits/tail MP:0005371 10.23 BBS2 BRCA2 CPLANE1 DYNC2H1 DYNC2I2 DYNC2LI1
8 craniofacial MP:0005382 10.22 BBS2 BBS4 CCND2 CPLANE1 DYNC2H1 GLI3
9 digestive/alimentary MP:0005381 10.21 BBS2 BBS4 BRCA2 CPLANE1 DYNC2H1 GLI3
10 renal/urinary system MP:0005367 10.07 BBS2 BBS4 CPLANE1 DYNC2H1 GLI3 HOXD13
11 reproductive system MP:0005389 9.97 BBS2 BBS4 BRCA2 CCND2 DYNLT2B GLI3
12 skeleton MP:0005390 9.97 BBS2 BBS4 BRCA2 CCND2 CPLANE1 DYNC2H1
13 respiratory system MP:0005388 9.91 BBS2 BBS4 CPLANE1 DYNC2H1 GLI3 IFT172
14 vision/eye MP:0005391 9.47 BBS2 BBS4 CCND2 CPLANE1 DYNC2H1 DYNC2I2
15 taste/olfaction MP:0005394 9.35 BBS2 BBS4 GLI3 SHH TTC8
Sources

Drugs & Therapeutics for Polydactyly

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Drugs for Polydactyly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2 Adrenergic alpha-Agonists Phase 4
3 Antihypertensive Agents Phase 4
4 Pharmaceutical Solutions Phase 4
5 Adrenergic Agents Phase 4
6 Neurotransmitter Agents Phase 4
7 Sympatholytics Phase 4
8 Analgesics Phase 4
9 Adrenergic Agonists Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clonidine for Tourniquet-related Pain in Children: A Pilot Study Not yet recruiting NCT04564430 Phase 4 Catapresan
2 Triphalangeal Thumbs in the Pediatric Population: Long Term Outcomes Following Surgical Intervention Completed NCT01409980
3 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404

Search NIH Clinical Center for Polydactyly

Cochrane evidence based reviews: polydactyly

Sources

Genetic Tests for Polydactyly

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Genetic tests related to Polydactyly:

# Genetic test Affiliating Genes
1 Polydactyly 29
Sources

Anatomical Context for Polydactyly

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MalaCards organs/tissues related to Polydactyly:

40
Heart, Kidney, Bone, Brain, Eye, Tongue, Pituitary
Sources

Publications for Polydactyly

About this section

Articles related to Polydactyly:

(show top 50) (show all 3095)
# Title Authors PMID Year
1
C5orf42 is the major gene responsible for OFD syndrome type VI. 6 61
24178751 2014
2
Polydactyly: how many disorders and how many genes? 57 61
12357471 2002
3
Associated anomalies in individuals with polydactyly. 57 61
9880209 1998
4
Epidemiological analysis of rare polydactylies. 61 57
8923939 1996
5
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 54 61
20142850 2010
6
Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly. 54 61
18925664 2008
7
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. 54 61
18766993 2008
8
Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1. 54 61
18689889 2008
9
Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog. 54 61
18272352 2008
10
Holoprosencephaly-Polydactyly syndrome: in search of an etiology. 54 61
18178536 2008
11
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. 61 54
18252212 2008
12
Characterization of a novel ectodermal signaling center regulating Tbx2 and Shh in the vertebrate limb. 54 61
17300775 2007
13
A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. 61 54
17300748 2007
14
Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly. 61 54
16650944 2006
15
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 54 61
16606853 2006
16
Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree. 54 61
16874813 2006
17
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. 61 54
16308660 2006
18
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. 61 54
16865294 2006
19
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. 61 54
15772095 2005
20
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. 61 54
16440883 2005
21
Bmp4 in limb bud mesoderm regulates digit pattern by controlling AER development. 54 61
15581864 2004
22
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. 54 61
12620993 2003
23
The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. 54 61
12365916 2002
24
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. 61 54
11850178 2002
25
Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. 54 61
11606546 2001
26
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 61 54
11381270 2001
27
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 54 61
10441342 1999
28
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. 61 54
10441570 1999
29
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. 54 61
9600232 1998
30
Point mutations in human GLI3 cause Greig syndrome. 54 61
9302279 1997
31
Prenatal diagnosis of a pure 15q distal trisomy derived from a maternal pericentric inversion: A case report. 61
33717247 2021
32
A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report. 61
33717254 2021
33
Overlapping holoprosencephaly-polydactyl syndrome and asphyxiating thoracic dystrophy, an incidental finding in late prenatal ultrasound: A rare case report. 61
33768892 2021
34
Patterns of congenital anomalies among individuals with trisomy 13 in Texas. 61
33749998 2021
35
Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model. 61
33664503 2021
36
Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia. 61
33794348 2021
37
Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease. 61
33741323 2021
38
Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. 61
33748949 2021
39
A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly. 61
33788986 2021
40
Development of Injectable Polydactyly-Derived Chondrocyte Sheets. 61
33801144 2021
41
A Frameshift Variant in KIAA0825 Causes Postaxial Polydactyly. 61
33776623 2021
42
Reconstruction of Foot Postaxial Polydactyly Using the On-top Plasty: A Case Report. 61
33353821 2021
43
Limited surface examination to evaluate potential teratogens in a resource-limited setting. 61
33779067 2021
44
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model. 61
33729075 2021
45
Prenatal diagnosis of persistent left superior vena cava, polyhydramnios and a small gastric bubble in a fetus with VACTERL association. 61
33678342 2021
46
Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature. 61
33438842 2021
47
Maternal exposure to ambient SO2 and risk of polydactyly and syndactyly: a population-based case-control study in Liaoning Province, China. 61
33118065 2021
48
Novel Use of Pennig External Fixation for the Treatment of Pediatric Syndactyly. 61
33654022 2021
49
Aesthetic and Anatomic Reconstruction of Polysyndactyly of the Fifth Toe Fused With the Fourth Toe. 61
32568755 2021
50
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis. 61
33776626 2021
Sources

Variations for Polydactyly

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ClinVar genetic disease variations for Polydactyly:

6 (show top 50) (show all 214)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 25 genes Deletion Pathogenic 549857 GRCh37: 2:219925666-220914504
GRCh38:
2 MKS1 NM_001165927.1(MKS1):c.1136-2A>C SNV Pathogenic 523519 rs1488635637 GRCh37: 17:56285364-56285364
GRCh38: 17:58208003-58208003
3 MKS1 NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) SNV Pathogenic 1393 rs137853105 GRCh37: 17:56283840-56283840
GRCh38: 17:58206479-58206479
4 MKS1 NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) Deletion Pathogenic 217677 rs754279998 GRCh37: 17:56285514-56285516
GRCh38: 17:58208153-58208155
5 HOXD13 NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) SNV Pathogenic 374019 rs200750564 GRCh37: 2:176959246-176959246
GRCh38: 2:176094518-176094518
6 BRCA2 NM_000059.3(BRCA2):c.9235del (p.Val3079fs) Deletion Pathogenic 38221 rs397507422 GRCh37: 13:32954261-32954261
GRCh38: 13:32380124-32380124
7 CPLANE1 NM_001384732.1(CPLANE1):c.3707delinsTT (p.Pro1236fs) Indel Likely pathogenic 978621 GRCh37: 5:37196064-37196064
GRCh38: 5:37195962-37195962
8 CPLANE1 NM_001384732.1(CPLANE1):c.8155_8156del (p.Ser2719fs) Microsatellite Likely pathogenic 978622 GRCh37: 5:37154059-37154060
GRCh38: 5:37153957-37153958
9 GLI3 NM_000168.6(GLI3):c.2740G>A (p.Gly914Ser) SNV Uncertain significance 912024 GRCh37: 7:42005931-42005931
GRCh38: 7:41966333-41966333
10 GLI3 NM_000168.6(GLI3):c.1957C>T (p.Pro653Ser) SNV Uncertain significance 912075 GRCh37: 7:42012082-42012082
GRCh38: 7:41972483-41972483
11 GLI3 NM_000168.6(GLI3):c.-105A>G SNV Uncertain significance 911180 GRCh37: 7:42276632-42276632
GRCh38: 7:42237033-42237033
12 GLI3 NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) SNV Uncertain significance 910150 GRCh37: 7:42085033-42085033
GRCh38: 7:42045434-42045434
13 GLI3 NM_000168.6(GLI3):c.*3002A>G SNV Uncertain significance 910290 GRCh37: 7:42000926-42000926
GRCh38: 7:41961328-41961328
14 GLI3 NM_000168.6(GLI3):c.*2861T>G SNV Uncertain significance 910291 GRCh37: 7:42001067-42001067
GRCh38: 7:41961469-41961469
15 GLI3 NM_000168.6(GLI3):c.*1553T>G SNV Uncertain significance 910409 GRCh37: 7:42002375-42002375
GRCh38: 7:41962777-41962777
16 GLI3 NM_000168.6(GLI3):c.*73C>T SNV Uncertain significance 910584 GRCh37: 7:42003855-42003855
GRCh38: 7:41964257-41964257
17 GLI3 NM_000168.6(GLI3):c.3786A>G (p.Pro1262=) SNV Uncertain significance 910687 GRCh37: 7:42004885-42004885
GRCh38: 7:41965287-41965287
18 GLI3 NM_000168.6(GLI3):c.3065C>T (p.Pro1022Leu) SNV Uncertain significance 909046 GRCh37: 7:42005606-42005606
GRCh38: 7:41966008-41966008
19 GLI3 NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln) SNV Uncertain significance 909047 GRCh37: 7:42005631-42005631
GRCh38: 7:41966033-41966033
20 GLI3 NM_000168.6(GLI3):c.2004G>A (p.Pro668=) SNV Uncertain significance 910858 GRCh37: 7:42012035-42012035
GRCh38: 7:41972436-41972436
21 GLI3 NM_000168.6(GLI3):c.*2744T>G SNV Uncertain significance 911505 GRCh37: 7:42001184-42001184
GRCh38: 7:41961586-41961586
22 GLI3 NM_000168.6(GLI3):c.*2176G>C SNV Uncertain significance 911564 GRCh37: 7:42001752-42001752
GRCh38: 7:41962154-41962154
23 GLI3 NM_000168.6(GLI3):c.*1470A>C SNV Uncertain significance 911630 GRCh37: 7:42002458-42002458
GRCh38: 7:41962860-41962860
24 GLI3 NM_000168.6(GLI3):c.2729G>A (p.Ser910Asn) SNV Uncertain significance 912025 GRCh37: 7:42005942-42005942
GRCh38: 7:41966344-41966344
25 GLI3 NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) SNV Uncertain significance 265182 rs772839719 GRCh37: 7:42005553-42005553
GRCh38: 7:41965955-41965955
26 CC2D2A NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) SNV Uncertain significance 56304 rs386833752 GRCh37: 4:15569352-15569352
GRCh38: 4:15567729-15567729
27 GLI3 NM_000168.6(GLI3):c.1648-7T>A SNV Uncertain significance 908068 GRCh37: 7:42017328-42017328
GRCh38: 7:41977729-41977729
28 GLI3 NM_000168.6(GLI3):c.*2612A>G SNV Uncertain significance 908536 GRCh37: 7:42001316-42001316
GRCh38: 7:41961718-41961718
29 GLI3 NM_000168.6(GLI3):c.*2089G>A SNV Uncertain significance 908612 GRCh37: 7:42001839-42001839
GRCh38: 7:41962241-41962241
30 GLI3 NM_000168.6(GLI3):c.*1471C>T SNV Uncertain significance 360185 rs886062321 GRCh37: 7:42002457-42002457
GRCh38: 7:41962859-41962859
31 GLI3 NM_000168.6(GLI3):c.*3309C>A SNV Uncertain significance 360157 rs553151369 GRCh37: 7:42000619-42000619
GRCh38: 7:41961021-41961021
32 GLI3 NM_000168.6(GLI3):c.*974T>A SNV Uncertain significance 360199 rs886062328 GRCh37: 7:42002954-42002954
GRCh38: 7:41963356-41963356
33 GLI3 NM_000168.6(GLI3):c.*2676C>T SNV Uncertain significance 360164 rs886062312 GRCh37: 7:42001252-42001252
GRCh38: 7:41961654-41961654
34 GLI3 NM_000168.6(GLI3):c.-3A>G SNV Uncertain significance 360263 rs886062340 GRCh37: 7:42262855-42262855
GRCh38: 7:42223256-42223256
35 GLI3 NM_000168.6(GLI3):c.*2146_*2150del Deletion Uncertain significance 360176 rs774204684 GRCh37: 7:42001778-42001782
GRCh38: 7:41962180-41962184
36 GLI3 NM_000168.6(GLI3):c.*1027C>T SNV Uncertain significance 360197 rs886062326 GRCh37: 7:42002901-42002901
GRCh38: 7:41963303-41963303
37 GLI3 NM_000168.6(GLI3):c.*66G>T SNV Uncertain significance 360219 rs886062334 GRCh37: 7:42003862-42003862
GRCh38: 7:41964264-41964264
38 GLI3 NM_000168.6(GLI3):c.*1399T>C SNV Uncertain significance 908682 GRCh37: 7:42002529-42002529
GRCh38: 7:41962931-41962931
39 GLI3 NM_000168.6(GLI3):c.*889T>C SNV Uncertain significance 908742 GRCh37: 7:42003039-42003039
GRCh38: 7:41963441-41963441
40 GLI3 NM_000168.6(GLI3):c.*386A>G SNV Uncertain significance 908799 GRCh37: 7:42003542-42003542
GRCh38: 7:41963944-41963944
41 GLI3 NM_000168.6(GLI3):c.*333A>G SNV Uncertain significance 908800 GRCh37: 7:42003595-42003595
GRCh38: 7:41963997-41963997
42 GLI3 NM_000168.6(GLI3):c.*311T>A SNV Uncertain significance 908802 GRCh37: 7:42003617-42003617
GRCh38: 7:41964019-41964019
43 GLI3 NM_000168.6(GLI3):c.4627G>T (p.Ala1543Ser) SNV Uncertain significance 908861 GRCh37: 7:42004044-42004044
GRCh38: 7:41964446-41964446
44 GLI3 NM_000168.6(GLI3):c.4016G>T (p.Arg1339Leu) SNV Uncertain significance 908915 GRCh37: 7:42004655-42004655
GRCh38: 7:41965057-41965057
45 GLI3 NM_000168.6(GLI3):c.21C>T (p.Ser7=) SNV Uncertain significance 909185 GRCh37: 7:42262832-42262832
GRCh38: 7:42223233-42223233
46 GLI3 NM_000168.6(GLI3):c.*2517G>A SNV Uncertain significance 909401 GRCh37: 7:42001411-42001411
GRCh38: 7:41961813-41961813
47 GLI3 NM_000168.6(GLI3):c.*1332C>T SNV Uncertain significance 908683 GRCh37: 7:42002596-42002596
GRCh38: 7:41962998-41962998
48 GLI3 NM_000168.6(GLI3):c.*248T>A SNV Uncertain significance 909650 GRCh37: 7:42003680-42003680
GRCh38: 7:41964082-41964082
49 GLI3 NM_000168.6(GLI3):c.3278C>T (p.Pro1093Leu) SNV Uncertain significance 909854 GRCh37: 7:42005393-42005393
GRCh38: 7:41965795-41965795
50 GLI3 NM_000168.6(GLI3):c.2375G>A (p.Arg792Gln) SNV Uncertain significance 909108 GRCh37: 7:42007250-42007250
GRCh38: 7:41967652-41967652

Copy number variations for Polydactyly from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 97909 16 14700000 16700000 Duplication or deletion polydactyly
Sources

Expression for Polydactyly

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Search GEO for disease gene expression data for Polydactyly.
Sources

Pathways for Polydactyly

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Pathways related to Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Organelle biogenesis and maintenance 65
Show member pathways
 12.42 TTC8 MKS1 IFT81 IFT172 DYNLT2B DYNC2LI1
2
Signaling by Hedgehog 65
Show member pathways
 12.09 SHH MKS1 IFT172 GLI3 DYNC2H1
3
Cargo trafficking to the periciliary membrane 65
Show member pathways
 11.61 TTC8 BBS4 BBS2
4
Hedgehog signaling pathway (KEGG) 36
11.25 SHH GLI3 CCND2
5
Hedgehog signaling events mediated by Gli proteins 1
11.08 SHH IFT172 GLI3
6
Intraflagellar transport 65
10.78 IFT81 IFT172 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1
7
Hedgehog Signaling Pathway (WikiPathways) 1
Show member pathways
 10.71 SHH GLI3
8
Tgif disruption of Shh signaling 1
10.32 SHH GLI3
Sources

GO Terms for Polydactyly

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Cellular components related to Polydactyly according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10.16 TTC8 MKS1 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
2 microtubule organizing center GO:0005815 10.03 TTC8 MKS1 DYNC2LI1 DYNC2I2 DYNC2I1 BRCA2
3 cell projection GO:0042995 10.03 TTC8 MKS1 IFT81 IFT172 GLI3 DYNC2LI1
4 centrosome GO:0005813 10.02 TTC8 MKS1 IFT81 DYNLT2B DYNC2LI1 DYNC2I2
5 motile cilium GO:0031514 9.89 IFT81 DYNC2LI1 DYNC2H1 BBS4 BBS2
6 axoneme GO:0005930 9.88 IFT172 GLI3 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2H1
7 ciliary transition zone GO:0035869 9.76 MKS1 DYNC2LI1 CPLANE1 BBS4
8 ciliary basal body GO:0036064 9.76 TTC8 MKS1 IFT81 IFT172 DYNC2LI1 DYNC2I2
9 ciliary membrane GO:0060170 9.73 TTC8 BBS4 BBS2
10 ciliary base GO:0097546 9.72 GLI3 DYNLT2B DYNC2I1
11 cytoplasmic dynein complex GO:0005868 9.72 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
12 BBSome GO:0034464 9.65 TTC8 BBS4 BBS2
13 pericentriolar material GO:0000242 9.58 DYNC2I1 BBS4
14 intraciliary transport particle B GO:0030992 9.57 IFT81 IFT172
15 ciliary plasm GO:0097014 9.54 DYNC2I2 DYNC2I1
16 interphase microtubule organizing center GO:0031021 9.52 DYNLT2B DYNC2I1
17 ciliary tip GO:0097542 9.5 IFT81 IFT172 GLI3 DYNC2LI1 DYNC2I2 DYNC2I1
18 cilium GO:0005929 9.44 TTC8 MKS1 IFT81 IFT172 GLI3 DYNLT2B

Biological processes related to Polydactyly according to GeneCards Suite gene sharing:

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.95 SHH IFT172 GLI3 DYNC2H1 CPLANE1
2 kidney development GO:0001822 9.91 SHH GLI3 DYNC2H1 CPLANE1
3 anterior/posterior pattern specification GO:0009952 9.87 SHH HOXD13 GLI3
4 neural tube closure GO:0001843 9.85 MKS1 IFT172 BBS4
5 microtubule-based movement GO:0007018 9.85 DYNC2I2 DYNC2I1 DYNC2H1
6 embryonic digit morphogenesis GO:0042733 9.85 SHH MKS1 LMBR1 HOXD13 GLI3 CPLANE1
7 protein processing GO:0016485 9.84 IFT172 GLI3 DYNC2H1
8 forebrain development GO:0030900 9.83 SHH GLI3 DYNC2H1
9 fat cell differentiation GO:0045444 9.83 TTC8 BBS4 BBS2
10 smoothened signaling pathway GO:0007224 9.83 SHH IFT172 GLI3
11 roof of mouth development GO:0060021 9.83 SHH IFT172 GLI3 CPLANE1
12 determination of left/right symmetry GO:0007368 9.83 SHH MKS1 IFT172 DYNC2LI1 DYNC2H1
13 hippocampus development GO:0021766 9.82 GLI3 BBS4 BBS2
14 heart looping GO:0001947 9.82 SHH IFT172 BBS4
15 pattern specification process GO:0007389 9.81 SHH HOXD13 GLI3
16 limb development GO:0060173 9.8 SHH IFT172 GLI3
17 embryonic limb morphogenesis GO:0030326 9.8 SHH HOXD13 GLI3 DYNC2H1
18 non-motile cilium assembly GO:1905515 9.8 TTC8 MKS1 IFT172 DYNC2H1 BBS4 BBS2
19 dorsal/ventral pattern formation GO:0009953 9.78 SHH IFT172 GLI3 DYNC2H1
20 positive regulation of smoothened signaling pathway GO:0045880 9.77 SHH IFT172 DYNC2H1
21 intraciliary transport GO:0042073 9.76 IFT81 IFT172 DYNC2I2 DYNC2I1
22 branching morphogenesis of an epithelial tube GO:0048754 9.74 SHH MKS1 GLI3
23 limb morphogenesis GO:0035108 9.73 ZNF141 HOXD13 GLI3
24 regulation of smoothened signaling pathway GO:0008589 9.71 MKS1 IFT81 IFT172
25 spinal cord motor neuron differentiation GO:0021522 9.71 SHH IFT172 GLI3 DYNC2H1
26 melanosome transport GO:0032402 9.7 BBS4 BBS2
27 embryonic morphogenesis GO:0048598 9.7 SHH GLI3
28 anatomical structure formation involved in morphogenesis GO:0048646 9.7 SHH GLI3
29 male genitalia development GO:0030539 9.69 SHH HOXD13
30 embryonic digestive tract morphogenesis GO:0048557 9.69 SHH GLI3
31 prostate gland development GO:0030850 9.69 SHH HOXD13 GLI3
32 establishment of planar polarity GO:0001736 9.68 TTC8 CPLANE1
33 striatum development GO:0021756 9.68 BBS4 BBS2
34 negative thymic T cell selection GO:0045060 9.68 SHH GLI3
35 positive regulation of alpha-beta T cell differentiation GO:0046638 9.67 SHH GLI3
36 artery development GO:0060840 9.66 SHH GLI3
37 intraciliary retrograde transport GO:0035721 9.65 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
38 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.64 BBS4 BBS2
39 spinal cord dorsal/ventral patterning GO:0021513 9.63 SHH GLI3
40 intraciliary transport involved in cilium assembly GO:0035735 9.63 IFT81 IFT172 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
41 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.62 BBS4 BBS2
42 hindgut morphogenesis GO:0007442 9.61 SHH GLI3
43 cell projection organization GO:0030030 9.61 TTC8 MKS1 IFT81 DYNC2LI1 DYNC2I1 DYNC2H1
44 regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901620 9.59 MKS1 GLI3
45 sensory processing GO:0050893 9.58 TTC8 BBS4
46 negative regulation of alpha-beta T cell differentiation GO:0046639 9.58 SHH GLI3
47 cilium assembly GO:0060271 9.4 TTC8 MKS1 IFT81 IFT172 DYNLT2B DYNC2LI1

Molecular functions related to Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light chain binding GO:0045503 9.16 DYNC2I2 DYNC2I1
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.13 TTC8 BBS4 BBS2
3 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 DYNC2I2 DYNC2I1
Sources

Sources for Polydactyly

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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